BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

543 related articles for article (PubMed ID: 12970845)

  • 1. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
    Bachinski LL; Udd B; Meola G; Sansone V; Bassez G; Eymard B; Thornton CA; Moxley RT; Harper PS; Rogers MT; Jurkat-Rott K; Lehmann-Horn F; Wieser T; Gamez J; Navarro C; Bottani A; Kohler A; Shriver MD; Sallinen R; Wessman M; Zhang S; Wright FA; Krahe R
    Am J Hum Genet; 2003 Oct; 73(4):835-48. PubMed ID: 12970845
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
    Liquori CL; Ikeda Y; Weatherspoon M; Ricker K; Schoser BG; Dalton JC; Day JW; Ranum LP
    Am J Hum Genet; 2003 Oct; 73(4):849-62. PubMed ID: 14505273
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
    Liquori CL; Ricker K; Moseley ML; Jacobsen JF; Kress W; Naylor SL; Day JW; Ranum LP
    Science; 2001 Aug; 293(5531):864-7. PubMed ID: 11486088
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
    Saito T; Amakusa Y; Kimura T; Yahara O; Aizawa H; Ikeda Y; Day JW; Ranum LP; Ohno K; Matsuura T
    Neurogenetics; 2008 Feb; 9(1):61-3. PubMed ID: 18057971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
    Cho DH; Tapscott SJ
    Biochim Biophys Acta; 2007 Feb; 1772(2):195-204. PubMed ID: 16876389
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myotonic dystrophy type 2.
    Finsterer J
    Eur J Neurol; 2002 Sep; 9(5):441-7. PubMed ID: 12220374
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
    Coenen MJ; Tieleman AA; Schijvenaars MM; Leferink M; Ranum LP; Scheffer H; van Engelen BG
    Eur J Hum Genet; 2011 May; 19(5):567-70. PubMed ID: 21224892
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Premutation allele pool in myotonic dystrophy type 2.
    Bachinski LL; Czernuszewicz T; Ramagli LS; Suominen T; Shriver MD; Udd B; Siciliano MJ; Krahe R
    Neurology; 2009 Feb; 72(6):490-7. PubMed ID: 19020295
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
    Vallo L; Bonifazi E; Borgiani P; Novelli G; Botta A
    Mol Cell Probes; 2005 Feb; 19(1):71-4. PubMed ID: 15652222
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic heterogeneity in myotonic dystrophies.
    Meola G
    Muscle Nerve; 2000 Dec; 23(12):1789-99. PubMed ID: 11102902
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
    Sallinen R; Vihola A; Bachinski LL; Huoponen K; Haapasalo H; Hackman P; Zhang S; Sirito M; Kalimo H; Meola G; Horelli-Kuitunen N; Wessman M; Krahe R; Udd B
    Neuromuscul Disord; 2004 Apr; 14(4):274-83. PubMed ID: 15019706
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).
    Botta A; Caldarola S; Vallo L; Bonifazi E; Fruci D; Gullotta F; Massa R; Novelli G; Loreni F
    Biochim Biophys Acta; 2006 Mar; 1762(3):329-34. PubMed ID: 16376058
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.
    Sun C; Henriksen OA; Tranebjaerg L
    Clin Genet; 1999 Dec; 56(6):457-61. PubMed ID: 10665666
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
    Meola G
    Acta Myol; 2013 Dec; 32(3):154-65. PubMed ID: 24803843
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
    Day JW; Ricker K; Jacobsen JF; Rasmussen LJ; Dick KA; Kress W; Schneider C; Koch MC; Beilman GJ; Harrison AR; Dalton JC; Ranum LP
    Neurology; 2003 Feb; 60(4):657-64. PubMed ID: 12601109
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
    Le Ber I; Martinez M; Campion D; Laquerrière A; Bétard C; Bassez G; Girard C; Saugier-Veber P; Raux G; Sergeant N; Magnier P; Maisonobe T; Eymard B; Duyckaerts C; Delacourte A; Frebourg T; Hannequin D
    Brain; 2004 Sep; 127(Pt 9):1979-92. PubMed ID: 15215218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic mapping of a second myotonic dystrophy locus.
    Ranum LP; Rasmussen PF; Benzow KA; Koob MD; Day JW
    Nat Genet; 1998 Jun; 19(2):196-8. PubMed ID: 9620781
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].
    Zhao XP; Xie HJ; Zheng HM; Yu ZL; Cui Y; Ding SJ; Ren DM; Tang GM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):459-62. PubMed ID: 15476170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Molecular pathways to myotonic dystrophy].
    Ishiura S
    Nihon Rinsho; 2005 Mar; 63(3):515-21. PubMed ID: 15773354
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?
    Abbruzzese C; Krahe R; Liguori M; Tessarolo D; Siciliano MJ; Ashizawa T; Giacanelli M
    J Neurol; 1996 Oct; 243(10):715-21. PubMed ID: 8923304
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 28.